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The Benz laboratory focuses on the molecular pathology and physiology of red cell development, the molecular basis of inherited hemolytic anemias, and the use of the red cell homeostatic system as a model to study gene regulation and growth control in other tissues.
During the past five years, Benz and colleagues have focused on the structure, function, gene regulation, and molecular pathology of protein 4.1. This cytoskeletal protein, originally described in the red cell, forms a ternary complex with spectrinactin, and attaches the spectrin latticework to membranes by binding to the cytoplasmic domains of key transmembrane proteins. Defects in this protein are associated with hereditary erythrocytosis. The laboratory has shown that many isoforms of protein 4.1 arise from a single protein 4.1R gene by tissue-specific alternative mRNA splicing pathways, a number of which they have characterized. The group has identified at least three target sequence areas and one putative splicing factor involved in tissue-specific regulation of red cell isoforms during erythroid differentiation.
The Benz laboratory continues to focus on the molecular pathology and physiology of red cell development, the molecular basis of inherited hemolytic anemias, and the use of the red cell homeostatic system as a model to study gene regulation and growth control in other tissues.
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